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Items: 1 to 20 of 1000

1.

rs1489399040 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>T [Show Flanks]
    Chromosome:
    13:111292700 (GRCh38)
    13:111945047 (GRCh37)
    Canonical SPDI:
    NC_000013.11:111292699:A:T
    Gene:
    ARHGEF7 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000007/1 (GnomAD)
    T=0.000008/2 (TOPMED)
    HGVS:

    2.

    rs1489242648 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>T [Show Flanks]
      Chromosome:
      13:111280330 (GRCh38)
      13:111932677 (GRCh37)
      Canonical SPDI:
      NC_000013.11:111280329:G:T
      Gene:
      ARHGEF7 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000013.11:g.111280330G>T, NC_000013.10:g.111932677G>T, NM_003899.5:c.1094G>T, NM_003899.4:c.1094G>T, NM_003899.3:c.1094G>T, XM_006719956.4:c.1565G>T, XM_006719956.3:c.1565G>T, XM_006719956.2:c.1565G>T, XM_006719956.1:c.1565G>T, NM_145735.3:c.1565G>T, NM_145735.2:c.1565G>T, NM_001113511.2:c.1628G>T, NM_001113511.1:c.1628G>T, NM_001113512.2:c.1478G>T, NM_001113512.1:c.1478G>T, XM_017020815.2:c.1349G>T, XM_017020815.1:c.1349G>T, NM_001354046.2:c.1565G>T, NM_001354046.1:c.1565G>T, NM_001354060.2:c.1094G>T, NM_001354060.1:c.1094G>T, NM_001354051.2:c.1094G>T, NM_001354051.1:c.1094G>T, NM_001354059.2:c.1094G>T, NM_001354059.1:c.1094G>T, NM_001354058.2:c.1094G>T, NM_001354058.1:c.1094G>T, NM_001330597.2:c.1094G>T, NM_001330597.1:c.1094G>T, NM_001354049.2:c.1094G>T, NM_001354049.1:c.1094G>T, NM_001354057.2:c.1094G>T, NM_001354057.1:c.1094G>T, NM_001354050.2:c.1094G>T, NM_001354050.1:c.1094G>T, NM_001113513.2:c.1094G>T, NM_001113513.1:c.1094G>T, NM_001354054.2:c.1094G>T, NM_001354054.1:c.1094G>T, NM_001354052.2:c.1094G>T, NM_001354052.1:c.1094G>T, NM_001330598.2:c.1094G>T, NM_001330598.1:c.1094G>T, NM_001320853.2:c.1319G>T, NM_001320853.1:c.1319G>T, XM_017020822.2:c.1094G>T, XM_017020822.1:c.1094G>T, NM_001354053.2:c.1094G>T, NM_001354053.1:c.1094G>T, NM_001320851.2:c.1094G>T, NM_001320851.1:c.1094G>T, NM_001354061.2:c.722G>T, NM_001354061.1:c.722G>T, NM_001320854.2:c.860G>T, NM_001320854.1:c.860G>T, NM_001354055.2:c.860G>T, NM_001354055.1:c.860G>T, XM_047430725.1:c.1382G>T, XM_047430730.1:c.1382G>T, XM_047430722.1:c.1565G>T, XM_047430723.1:c.1478G>T, XM_047430739.1:c.1094G>T, XM_047430724.1:c.1478G>T, NM_001320852.1:c.1565G>T, XM_047430726.1:c.1349G>T, XM_047430740.1:c.1094G>T, NM_001354047.1:c.1349G>T, XM_047430728.1:c.1349G>T, XM_047430729.1:c.1478G>T, XM_047430732.1:c.1349G>T, NM_001354048.1:c.1094G>T, NM_001354056.1:c.1094G>T, XM_047430734.1:c.1094G>T, XM_047430738.1:c.1094G>T, XM_047430733.1:c.1094G>T, XM_047430735.1:c.1094G>T, XM_047430727.1:c.1319G>T, XM_047430737.1:c.1094G>T, XM_047430742.1:c.1094G>T, XM_047430745.1:c.1094G>T, XM_047430736.1:c.1094G>T, XM_047430741.1:c.1094G>T, XM_047430744.1:c.1094G>T, XM_047430743.1:c.1094G>T, XM_047430746.1:c.683G>T, XR_007063704.1:n.2473G>T, XM_047430747.1:c.1094G>T, NP_003890.1:p.Arg365Ile, XP_006720019.1:p.Arg522Ile, NP_663788.1:p.Arg522Ile, NP_001106983.1:p.Arg543Ile, NP_001106984.1:p.Arg493Ile, XP_016876304.1:p.Arg450Ile, NP_001340975.1:p.Arg522Ile, NP_001340989.1:p.Arg365Ile, NP_001340980.1:p.Arg365Ile, NP_001340988.1:p.Arg365Ile, NP_001340987.1:p.Arg365Ile, NP_001317526.1:p.Arg365Ile, NP_001340978.1:p.Arg365Ile, NP_001340986.1:p.Arg365Ile, NP_001340979.1:p.Arg365Ile, NP_001106985.1:p.Arg365Ile, NP_001340983.1:p.Arg365Ile, NP_001340981.1:p.Arg365Ile, NP_001317527.1:p.Arg365Ile, NP_001307782.1:p.Arg440Ile, XP_016876311.1:p.Arg365Ile, NP_001340982.1:p.Arg365Ile, NP_001307780.1:p.Arg365Ile, NP_001340990.1:p.Arg241Ile, NP_001307783.1:p.Arg287Ile, NP_001340984.1:p.Arg287Ile, XP_047286681.1:p.Arg461Ile, XP_047286686.1:p.Arg461Ile, XP_047286678.1:p.Arg522Ile, XP_047286679.1:p.Arg493Ile, XP_047286695.1:p.Arg365Ile, XP_047286680.1:p.Arg493Ile, NP_001307781.1:p.Arg522Ile, XP_047286682.1:p.Arg450Ile, XP_047286696.1:p.Arg365Ile, NP_001340976.1:p.Arg450Ile, XP_047286684.1:p.Arg450Ile, XP_047286685.1:p.Arg493Ile, XP_047286688.1:p.Arg450Ile, NP_001340977.1:p.Arg365Ile, NP_001340985.1:p.Arg365Ile, XP_047286690.1:p.Arg365Ile, XP_047286694.1:p.Arg365Ile, XP_047286689.1:p.Arg365Ile, XP_047286691.1:p.Arg365Ile, XP_047286683.1:p.Arg440Ile, XP_047286693.1:p.Arg365Ile, XP_047286698.1:p.Arg365Ile, XP_047286701.1:p.Arg365Ile, XP_047286692.1:p.Arg365Ile, XP_047286697.1:p.Arg365Ile, XP_047286700.1:p.Arg365Ile, XP_047286699.1:p.Arg365Ile, XP_047286702.1:p.Arg228Ile, XP_047286703.1:p.Arg365Ile

      3.

      rs1488937006 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        13:111294394 (GRCh38)
        13:111946741 (GRCh37)
        Canonical SPDI:
        NC_000013.11:111294393:C:T
        Gene:
        ARHGEF7 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.000142/2 (ALFA)
        T=0.000007/1 (GnomAD)
        T=0.000023/6 (TOPMED)
        HGVS:

        4.

        rs1488279981 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          13:111292479 (GRCh38)
          13:111944826 (GRCh37)
          Canonical SPDI:
          NC_000013.11:111292478:G:C
          Gene:
          ARHGEF7 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          C=0.000007/1 (GnomAD)
          HGVS:

          5.

          rs1488121974 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            13:111293492 (GRCh38)
            13:111945839 (GRCh37)
            Canonical SPDI:
            NC_000013.11:111293491:C:T
            Gene:
            ARHGEF7 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000011/3 (TOPMED)
            T=0.000014/2 (GnomAD)
            HGVS:

            6.

            rs1487766136 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              13:111274768 (GRCh38)
              13:111927115 (GRCh37)
              Canonical SPDI:
              NC_000013.11:111274767:T:C
              Gene:
              ARHGEF7 (Varview)
              Functional Consequence:
              coding_sequence_variant,non_coding_transcript_variant,missense_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0.000111/1 (ALFA)
              C=0.00001/2 (GnomAD_exomes)
              HGVS:
              NC_000013.11:g.111274768T>C, NC_000013.10:g.111927115T>C, NM_003899.5:c.779T>C, NM_003899.4:c.779T>C, NM_003899.3:c.779T>C, XM_006719956.4:c.1250T>C, XM_006719956.3:c.1250T>C, XM_006719956.2:c.1250T>C, XM_006719956.1:c.1250T>C, NM_145735.3:c.1250T>C, NM_145735.2:c.1250T>C, XM_011521133.3:c.1250T>C, XM_011521133.2:c.1250T>C, XM_011521133.1:c.1250T>C, NM_001113511.2:c.1313T>C, NM_001113511.1:c.1313T>C, NM_001113512.2:c.1163T>C, NM_001113512.1:c.1163T>C, XM_017020815.2:c.1034T>C, XM_017020815.1:c.1034T>C, NM_001354046.2:c.1250T>C, NM_001354046.1:c.1250T>C, NM_001354060.2:c.779T>C, NM_001354060.1:c.779T>C, NM_001354051.2:c.779T>C, NM_001354051.1:c.779T>C, NM_001354059.2:c.779T>C, NM_001354059.1:c.779T>C, NM_001354058.2:c.779T>C, NM_001354058.1:c.779T>C, NM_001330597.2:c.779T>C, NM_001330597.1:c.779T>C, NM_001354049.2:c.779T>C, NM_001354049.1:c.779T>C, NM_001354057.2:c.779T>C, NM_001354057.1:c.779T>C, NM_001354050.2:c.779T>C, NM_001354050.1:c.779T>C, NM_001113513.2:c.779T>C, NM_001113513.1:c.779T>C, NM_001354054.2:c.779T>C, NM_001354054.1:c.779T>C, NM_001354052.2:c.779T>C, NM_001354052.1:c.779T>C, NM_001330598.2:c.779T>C, NM_001330598.1:c.779T>C, NM_001320853.2:c.1004T>C, NM_001320853.1:c.1004T>C, XM_017020822.2:c.779T>C, XM_017020822.1:c.779T>C, NM_001354053.2:c.779T>C, NM_001354053.1:c.779T>C, NM_001320851.2:c.779T>C, NM_001320851.1:c.779T>C, NM_001354061.2:c.407T>C, NM_001354061.1:c.407T>C, NM_001320854.2:c.545T>C, NM_001320854.1:c.545T>C, NM_001354055.2:c.545T>C, NM_001354055.1:c.545T>C, XM_047430725.1:c.1067T>C, XM_047430730.1:c.1067T>C, XM_047430722.1:c.1250T>C, XM_047430723.1:c.1163T>C, XM_047430739.1:c.779T>C, XM_047430724.1:c.1163T>C, NM_001320852.1:c.1250T>C, XM_047430726.1:c.1034T>C, XM_047430740.1:c.779T>C, NM_001354047.1:c.1034T>C, XM_047430728.1:c.1034T>C, XM_047430729.1:c.1163T>C, XM_047430732.1:c.1034T>C, NM_001354048.1:c.779T>C, NM_001354056.1:c.779T>C, XM_047430734.1:c.779T>C, XM_047430738.1:c.779T>C, XM_047430733.1:c.779T>C, XM_047430735.1:c.779T>C, XM_047430727.1:c.1004T>C, XM_047430737.1:c.779T>C, XM_047430742.1:c.779T>C, XM_047430745.1:c.779T>C, XM_047430736.1:c.779T>C, XM_047430741.1:c.779T>C, XM_047430744.1:c.779T>C, XM_047430743.1:c.779T>C, XM_047430746.1:c.368T>C, XR_007063704.1:n.2158T>C, XM_047430747.1:c.779T>C, XM_047430748.1:c.779T>C, XM_047430750.1:c.779T>C, XM_047430751.1:c.779T>C, NP_003890.1:p.Met260Thr, XP_006720019.1:p.Met417Thr, NP_663788.1:p.Met417Thr, XP_011519435.1:p.Met417Thr, NP_001106983.1:p.Met438Thr, NP_001106984.1:p.Met388Thr, XP_016876304.1:p.Met345Thr, NP_001340975.1:p.Met417Thr, NP_001340989.1:p.Met260Thr, NP_001340980.1:p.Met260Thr, NP_001340988.1:p.Met260Thr, NP_001340987.1:p.Met260Thr, NP_001317526.1:p.Met260Thr, NP_001340978.1:p.Met260Thr, NP_001340986.1:p.Met260Thr, NP_001340979.1:p.Met260Thr, NP_001106985.1:p.Met260Thr, NP_001340983.1:p.Met260Thr, NP_001340981.1:p.Met260Thr, NP_001317527.1:p.Met260Thr, NP_001307782.1:p.Met335Thr, XP_016876311.1:p.Met260Thr, NP_001340982.1:p.Met260Thr, NP_001307780.1:p.Met260Thr, NP_001340990.1:p.Met136Thr, NP_001307783.1:p.Met182Thr, NP_001340984.1:p.Met182Thr, XP_047286681.1:p.Met356Thr, XP_047286686.1:p.Met356Thr, XP_047286678.1:p.Met417Thr, XP_047286679.1:p.Met388Thr, XP_047286695.1:p.Met260Thr, XP_047286680.1:p.Met388Thr, NP_001307781.1:p.Met417Thr, XP_047286682.1:p.Met345Thr, XP_047286696.1:p.Met260Thr, NP_001340976.1:p.Met345Thr, XP_047286684.1:p.Met345Thr, XP_047286685.1:p.Met388Thr, XP_047286688.1:p.Met345Thr, NP_001340977.1:p.Met260Thr, NP_001340985.1:p.Met260Thr, XP_047286690.1:p.Met260Thr, XP_047286694.1:p.Met260Thr, XP_047286689.1:p.Met260Thr, XP_047286691.1:p.Met260Thr, XP_047286683.1:p.Met335Thr, XP_047286693.1:p.Met260Thr, XP_047286698.1:p.Met260Thr, XP_047286701.1:p.Met260Thr, XP_047286692.1:p.Met260Thr, XP_047286697.1:p.Met260Thr, XP_047286700.1:p.Met260Thr, XP_047286699.1:p.Met260Thr, XP_047286702.1:p.Met123Thr, XP_047286703.1:p.Met260Thr, XP_047286704.1:p.Met260Thr, XP_047286706.1:p.Met260Thr, XP_047286707.1:p.Met260Thr

              7.

              rs1487494833 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                13:111294642 (GRCh38)
                13:111946989 (GRCh37)
                Canonical SPDI:
                NC_000013.11:111294641:C:G
                Gene:
                ARHGEF7 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000008/2 (TOPMED)
                HGVS:

                8.

                rs1487434286 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  13:111293510 (GRCh38)
                  13:111945857 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:111293509:C:T
                  Gene:
                  ARHGEF7 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000007/1 (GnomAD)
                  HGVS:

                  9.

                  rs1486881738 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G,T [Show Flanks]
                    Chromosome:
                    13:111243957 (GRCh38)
                    13:111896304 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:111243956:C:G,NC_000013.11:111243956:C:T
                    Gene:
                    ARHGEF7 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (GnomAD_exomes)
                    T=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000013.11:g.111243957C>G, NC_000013.11:g.111243957C>T, NC_000013.10:g.111896304C>G, NC_000013.10:g.111896304C>T, NM_003899.5:c.374C>G, NM_003899.5:c.374C>T, NM_003899.4:c.374C>G, NM_003899.4:c.374C>T, NM_003899.3:c.374C>G, NM_003899.3:c.374C>T, XM_006719956.4:c.845C>G, XM_006719956.4:c.845C>T, XM_006719956.3:c.845C>G, XM_006719956.3:c.845C>T, XM_006719956.2:c.845C>G, XM_006719956.2:c.845C>T, XM_006719956.1:c.845C>G, XM_006719956.1:c.845C>T, NM_145735.3:c.845C>G, NM_145735.3:c.845C>T, NM_145735.2:c.845C>G, NM_145735.2:c.845C>T, XM_011521133.3:c.845C>G, XM_011521133.3:c.845C>T, XM_011521133.2:c.845C>G, XM_011521133.2:c.845C>T, XM_011521133.1:c.845C>G, XM_011521133.1:c.845C>T, NM_001113511.2:c.908C>G, NM_001113511.2:c.908C>T, NM_001113511.1:c.908C>G, NM_001113511.1:c.908C>T, NM_001113512.2:c.758C>G, NM_001113512.2:c.758C>T, NM_001113512.1:c.758C>G, NM_001113512.1:c.758C>T, XM_017020815.2:c.629C>G, XM_017020815.2:c.629C>T, XM_017020815.1:c.629C>G, XM_017020815.1:c.629C>T, NM_001354046.2:c.845C>G, NM_001354046.2:c.845C>T, NM_001354046.1:c.845C>G, NM_001354046.1:c.845C>T, NM_001354060.2:c.374C>G, NM_001354060.2:c.374C>T, NM_001354060.1:c.374C>G, NM_001354060.1:c.374C>T, NM_001354051.2:c.374C>G, NM_001354051.2:c.374C>T, NM_001354051.1:c.374C>G, NM_001354051.1:c.374C>T, NM_001354059.2:c.374C>G, NM_001354059.2:c.374C>T, NM_001354059.1:c.374C>G, NM_001354059.1:c.374C>T, NM_001354058.2:c.374C>G, NM_001354058.2:c.374C>T, NM_001354058.1:c.374C>G, NM_001354058.1:c.374C>T, NM_001330597.2:c.374C>G, NM_001330597.2:c.374C>T, NM_001330597.1:c.374C>G, NM_001330597.1:c.374C>T, NM_001354049.2:c.374C>G, NM_001354049.2:c.374C>T, NM_001354049.1:c.374C>G, NM_001354049.1:c.374C>T, NM_001354057.2:c.374C>G, NM_001354057.2:c.374C>T, NM_001354057.1:c.374C>G, NM_001354057.1:c.374C>T, NM_001354050.2:c.374C>G, NM_001354050.2:c.374C>T, NM_001354050.1:c.374C>G, NM_001354050.1:c.374C>T, NM_001113513.2:c.374C>G, NM_001113513.2:c.374C>T, NM_001113513.1:c.374C>G, NM_001113513.1:c.374C>T, NM_001354054.2:c.374C>G, NM_001354054.2:c.374C>T, NM_001354054.1:c.374C>G, NM_001354054.1:c.374C>T, NM_001354052.2:c.374C>G, NM_001354052.2:c.374C>T, NM_001354052.1:c.374C>G, NM_001354052.1:c.374C>T, NM_001330598.2:c.374C>G, NM_001330598.2:c.374C>T, NM_001330598.1:c.374C>G, NM_001330598.1:c.374C>T, NM_001320853.2:c.599C>G, NM_001320853.2:c.599C>T, NM_001320853.1:c.599C>G, NM_001320853.1:c.599C>T, XM_017020822.2:c.374C>G, XM_017020822.2:c.374C>T, XM_017020822.1:c.374C>G, XM_017020822.1:c.374C>T, NM_001354053.2:c.374C>G, NM_001354053.2:c.374C>T, NM_001354053.1:c.374C>G, NM_001354053.1:c.374C>T, NM_001320851.2:c.374C>G, NM_001320851.2:c.374C>T, NM_001320851.1:c.374C>G, NM_001320851.1:c.374C>T, NM_001354061.2:c.-58C>G, NM_001354061.2:c.-58C>T, NM_001354061.1:c.-58C>G, NM_001354061.1:c.-58C>T, NM_001320854.2:c.140C>G, NM_001320854.2:c.140C>T, NM_001320854.1:c.140C>G, NM_001320854.1:c.140C>T, NM_001354055.2:c.140C>G, NM_001354055.2:c.140C>T, NM_001354055.1:c.140C>G, NM_001354055.1:c.140C>T, XM_047430725.1:c.662C>G, XM_047430725.1:c.662C>T, XM_047430730.1:c.662C>G, XM_047430730.1:c.662C>T, XM_047430722.1:c.845C>G, XM_047430722.1:c.845C>T, XM_047430723.1:c.758C>G, XM_047430723.1:c.758C>T, XM_047430739.1:c.374C>G, XM_047430739.1:c.374C>T, XM_047430724.1:c.758C>G, XM_047430724.1:c.758C>T, NM_001320852.1:c.845C>G, NM_001320852.1:c.845C>T, XM_047430726.1:c.629C>G, XM_047430726.1:c.629C>T, XM_047430740.1:c.374C>G, XM_047430740.1:c.374C>T, NM_001354047.1:c.629C>G, NM_001354047.1:c.629C>T, XM_047430728.1:c.629C>G, XM_047430728.1:c.629C>T, XM_047430729.1:c.758C>G, XM_047430729.1:c.758C>T, XM_047430732.1:c.629C>G, XM_047430732.1:c.629C>T, NM_001354048.1:c.374C>G, NM_001354048.1:c.374C>T, NM_001354056.1:c.374C>G, NM_001354056.1:c.374C>T, XM_047430734.1:c.374C>G, XM_047430734.1:c.374C>T, XM_047430738.1:c.374C>G, XM_047430738.1:c.374C>T, XM_047430733.1:c.374C>G, XM_047430733.1:c.374C>T, XM_047430735.1:c.374C>G, XM_047430735.1:c.374C>T, XM_047430727.1:c.599C>G, XM_047430727.1:c.599C>T, XM_047430737.1:c.374C>G, XM_047430737.1:c.374C>T, XM_047430742.1:c.374C>G, XM_047430742.1:c.374C>T, XM_047430745.1:c.374C>G, XM_047430745.1:c.374C>T, XM_047430736.1:c.374C>G, XM_047430736.1:c.374C>T, XM_047430741.1:c.374C>G, XM_047430741.1:c.374C>T, XM_047430744.1:c.374C>G, XM_047430744.1:c.374C>T, XM_047430743.1:c.374C>G, XM_047430743.1:c.374C>T, XR_007063704.1:n.1753C>G, XR_007063704.1:n.1753C>T, XM_047430747.1:c.374C>G, XM_047430747.1:c.374C>T, XM_047430748.1:c.374C>G, XM_047430748.1:c.374C>T, XM_047430750.1:c.374C>G, XM_047430750.1:c.374C>T, XM_047430751.1:c.374C>G, XM_047430751.1:c.374C>T, NP_003890.1:p.Thr125Ser, NP_003890.1:p.Thr125Ile, XP_006720019.1:p.Thr282Ser, XP_006720019.1:p.Thr282Ile, NP_663788.1:p.Thr282Ser, NP_663788.1:p.Thr282Ile, XP_011519435.1:p.Thr282Ser, XP_011519435.1:p.Thr282Ile, NP_001106983.1:p.Thr303Ser, NP_001106983.1:p.Thr303Ile, NP_001106984.1:p.Thr253Ser, NP_001106984.1:p.Thr253Ile, XP_016876304.1:p.Thr210Ser, XP_016876304.1:p.Thr210Ile, NP_001340975.1:p.Thr282Ser, NP_001340975.1:p.Thr282Ile, NP_001340989.1:p.Thr125Ser, NP_001340989.1:p.Thr125Ile, NP_001340980.1:p.Thr125Ser, NP_001340980.1:p.Thr125Ile, NP_001340988.1:p.Thr125Ser, NP_001340988.1:p.Thr125Ile, NP_001340987.1:p.Thr125Ser, NP_001340987.1:p.Thr125Ile, NP_001317526.1:p.Thr125Ser, NP_001317526.1:p.Thr125Ile, NP_001340978.1:p.Thr125Ser, NP_001340978.1:p.Thr125Ile, NP_001340986.1:p.Thr125Ser, NP_001340986.1:p.Thr125Ile, NP_001340979.1:p.Thr125Ser, NP_001340979.1:p.Thr125Ile, NP_001106985.1:p.Thr125Ser, NP_001106985.1:p.Thr125Ile, NP_001340983.1:p.Thr125Ser, NP_001340983.1:p.Thr125Ile, NP_001340981.1:p.Thr125Ser, NP_001340981.1:p.Thr125Ile, NP_001317527.1:p.Thr125Ser, NP_001317527.1:p.Thr125Ile, NP_001307782.1:p.Thr200Ser, NP_001307782.1:p.Thr200Ile, XP_016876311.1:p.Thr125Ser, XP_016876311.1:p.Thr125Ile, NP_001340982.1:p.Thr125Ser, NP_001340982.1:p.Thr125Ile, NP_001307780.1:p.Thr125Ser, NP_001307780.1:p.Thr125Ile, NP_001307783.1:p.Thr47Ser, NP_001307783.1:p.Thr47Ile, NP_001340984.1:p.Thr47Ser, NP_001340984.1:p.Thr47Ile, XP_047286681.1:p.Thr221Ser, XP_047286681.1:p.Thr221Ile, XP_047286686.1:p.Thr221Ser, XP_047286686.1:p.Thr221Ile, XP_047286678.1:p.Thr282Ser, XP_047286678.1:p.Thr282Ile, XP_047286679.1:p.Thr253Ser, XP_047286679.1:p.Thr253Ile, XP_047286695.1:p.Thr125Ser, XP_047286695.1:p.Thr125Ile, XP_047286680.1:p.Thr253Ser, XP_047286680.1:p.Thr253Ile, NP_001307781.1:p.Thr282Ser, NP_001307781.1:p.Thr282Ile, XP_047286682.1:p.Thr210Ser, XP_047286682.1:p.Thr210Ile, XP_047286696.1:p.Thr125Ser, XP_047286696.1:p.Thr125Ile, NP_001340976.1:p.Thr210Ser, NP_001340976.1:p.Thr210Ile, XP_047286684.1:p.Thr210Ser, XP_047286684.1:p.Thr210Ile, XP_047286685.1:p.Thr253Ser, XP_047286685.1:p.Thr253Ile, XP_047286688.1:p.Thr210Ser, XP_047286688.1:p.Thr210Ile, NP_001340977.1:p.Thr125Ser, NP_001340977.1:p.Thr125Ile, NP_001340985.1:p.Thr125Ser, NP_001340985.1:p.Thr125Ile, XP_047286690.1:p.Thr125Ser, XP_047286690.1:p.Thr125Ile, XP_047286694.1:p.Thr125Ser, XP_047286694.1:p.Thr125Ile, XP_047286689.1:p.Thr125Ser, XP_047286689.1:p.Thr125Ile, XP_047286691.1:p.Thr125Ser, XP_047286691.1:p.Thr125Ile, XP_047286683.1:p.Thr200Ser, XP_047286683.1:p.Thr200Ile, XP_047286693.1:p.Thr125Ser, XP_047286693.1:p.Thr125Ile, XP_047286698.1:p.Thr125Ser, XP_047286698.1:p.Thr125Ile, XP_047286701.1:p.Thr125Ser, XP_047286701.1:p.Thr125Ile, XP_047286692.1:p.Thr125Ser, XP_047286692.1:p.Thr125Ile, XP_047286697.1:p.Thr125Ser, XP_047286697.1:p.Thr125Ile, XP_047286700.1:p.Thr125Ser, XP_047286700.1:p.Thr125Ile, XP_047286699.1:p.Thr125Ser, XP_047286699.1:p.Thr125Ile, XP_047286703.1:p.Thr125Ser, XP_047286703.1:p.Thr125Ile, XP_047286704.1:p.Thr125Ser, XP_047286704.1:p.Thr125Ile, XP_047286706.1:p.Thr125Ser, XP_047286706.1:p.Thr125Ile, XP_047286707.1:p.Thr125Ser, XP_047286707.1:p.Thr125Ile

                    10.

                    rs1485767772 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->GT [Show Flanks]
                      Chromosome:
                      13:111294782 (GRCh38)
                      13:111947130 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:111294782:GT:GTGT
                      Gene:
                      ARHGEF7 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      GTGT=0./0 (ALFA)
                      GT=0.000042/11 (TOPMED)
                      GT=0.000064/9 (GnomAD)
                      HGVS:
                      NC_000013.11:g.111294783_111294784dup, NC_000013.10:g.111947130_111947131dup, NM_145735.3:c.*2451_*2452dup, NM_145735.2:c.*2451_*2452dup, NM_001113511.2:c.*2451_*2452dup, NM_001113511.1:c.*2451_*2452dup, NM_001113512.2:c.*2451_*2452dup, NM_001113512.1:c.*2451_*2452dup, NM_001354060.2:c.*2451_*2452dup, NM_001354060.1:c.*2451_*2452dup, NM_001354059.2:c.*2451_*2452dup, NM_001354059.1:c.*2451_*2452dup, NM_001354058.2:c.*2451_*2452dup, NM_001354058.1:c.*2451_*2452dup, NM_001330597.2:c.*2451_*2452dup, NM_001330597.1:c.*2451_*2452dup, NM_001354057.2:c.*2451_*2452dup, NM_001354057.1:c.*2451_*2452dup, NM_001330598.2:c.*2451_*2452dup, NM_001330598.1:c.*2451_*2452dup, NM_001354061.2:c.*2451_*2452dup, NM_001354061.1:c.*2451_*2452dup, NM_001320854.2:c.*2451_*2452dup, NM_001320854.1:c.*2451_*2452dup, NM_001354047.1:c.*2451_*2452dup, NM_001354056.1:c.*2451_*2452dup

                      11.

                      rs1485499422 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        13:111115339 (GRCh38)
                        13:111767686 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:111115338:G:A
                        Gene:
                        ARHGEF7 (Varview), ARHGEF7-AS2 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000015/2 (GnomAD)
                        A=0.000023/6 (TOPMED)
                        HGVS:

                        12.

                        rs1485148164 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          13:111153949 (GRCh38)
                          13:111806296 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:111153948:C:T
                          Gene:
                          ARHGEF7 (Varview), LOC101060553 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,5_prime_UTR_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000013.11:g.111153949C>T, NC_000013.10:g.111806296C>T, NM_003899.5:c.-262C>T, NM_003899.4:c.-262C>T, NM_003899.3:c.-262C>T, XM_006719956.4:c.210C>T, XM_006719956.3:c.210C>T, XM_006719956.2:c.210C>T, XM_006719956.1:c.210C>T, NM_145735.3:c.210C>T, NM_145735.2:c.210C>T, XM_011521133.3:c.210C>T, XM_011521133.2:c.210C>T, XM_011521133.1:c.210C>T, NM_001113511.2:c.210C>T, NM_001113511.1:c.210C>T, XM_017020815.2:c.210C>T, XM_017020815.1:c.210C>T, NM_001354046.2:c.210C>T, NM_001354046.1:c.210C>T, NM_001354060.2:c.-262C>T, NM_001354060.1:c.-262C>T, NM_001354051.2:c.-262C>T, NM_001354051.1:c.-262C>T, NM_001354059.2:c.-325C>T, NM_001354059.1:c.-325C>T, NM_001354058.2:c.-274C>T, NM_001354058.1:c.-274C>T, NM_001330597.2:c.-262C>T, NM_001330597.1:c.-262C>T, NM_001354049.2:c.-262C>T, NM_001354049.1:c.-262C>T, NM_001354057.2:c.-240C>T, NM_001354057.1:c.-240C>T, NM_001354050.2:c.-177C>T, NM_001354050.1:c.-177C>T, NM_001354054.2:c.-262C>T, NM_001354054.1:c.-262C>T, NM_001354052.2:c.-262C>T, NM_001354052.1:c.-262C>T, NM_001330598.2:c.-46C>T, NM_001330598.1:c.-46C>T, XM_017020822.2:c.-46C>T, XM_017020822.1:c.-46C>T, NM_001354053.2:c.-46C>T, NM_001354053.1:c.-46C>T, NM_001320851.2:c.-46C>T, NM_001320851.1:c.-46C>T, XM_047430722.1:c.210C>T, NM_001320852.1:c.210C>T, XM_047430726.1:c.210C>T, NM_001354047.1:c.210C>T, XM_047430728.1:c.210C>T, XM_047430732.1:c.210C>T, NM_001354048.1:c.-262C>T, NM_001354056.1:c.-46C>T, XM_047430738.1:c.-262C>T, XM_047430733.1:c.-262C>T, XM_047430735.1:c.-177C>T, XM_047430742.1:c.-262C>T, XM_047430745.1:c.-262C>T, XM_047430736.1:c.-46C>T, XM_047430741.1:c.-46C>T, XM_047430744.1:c.-177C>T, XR_007063704.1:n.1118C>T, XM_047430747.1:c.-262C>T, XM_047430748.1:c.-262C>T, XM_047430750.1:c.-177C>T, XM_047430751.1:c.-46C>T

                          13.

                          rs1484812991 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            13:111114819 (GRCh38)
                            13:111767166 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:111114818:C:T
                            Gene:
                            ARHGEF7 (Varview), ARHGEF7-AS2 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.000071/1 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            HGVS:

                            14.

                            rs1484803579 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              13:111115037 (GRCh38)
                              13:111767384 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:111115036:C:A
                              Gene:
                              ARHGEF7 (Varview), ARHGEF7-AS2 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000007/1 (GnomAD)
                              HGVS:

                              15.

                              rs1484401095 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                13:111115431 (GRCh38)
                                13:111767778 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:111115430:G:A
                                Gene:
                                ARHGEF7 (Varview), ARHGEF7-AS2 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000015/2 (GnomAD)
                                HGVS:

                                16.

                                rs1482930754 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  13:111293156 (GRCh38)
                                  13:111945503 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:111293155:A:G
                                  Gene:
                                  ARHGEF7 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0.000071/1 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1482200413 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    13:111283294 (GRCh38)
                                    13:111935641 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:111283293:G:A
                                    Gene:
                                    ARHGEF7 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000013.11:g.111283294G>A, NC_000013.10:g.111935641G>A, NM_003899.5:c.1410G>A, NM_003899.4:c.1410G>A, NM_003899.3:c.1410G>A, XM_006719956.4:c.1881G>A, XM_006719956.3:c.1881G>A, XM_006719956.2:c.1881G>A, XM_006719956.1:c.1881G>A, NM_145735.3:c.1881G>A, NM_145735.2:c.1881G>A, NM_001113511.2:c.1944G>A, NM_001113511.1:c.1944G>A, NM_001113512.2:c.1794G>A, NM_001113512.1:c.1794G>A, XM_017020815.2:c.1665G>A, XM_017020815.1:c.1665G>A, NM_001354046.2:c.1881G>A, NM_001354046.1:c.1881G>A, NM_001354060.2:c.1410G>A, NM_001354060.1:c.1410G>A, NM_001354051.2:c.1410G>A, NM_001354051.1:c.1410G>A, NM_001354059.2:c.1410G>A, NM_001354059.1:c.1410G>A, NM_001354058.2:c.1410G>A, NM_001354058.1:c.1410G>A, NM_001330597.2:c.1410G>A, NM_001330597.1:c.1410G>A, NM_001354049.2:c.1410G>A, NM_001354049.1:c.1410G>A, NM_001354057.2:c.1410G>A, NM_001354057.1:c.1410G>A, NM_001354050.2:c.1410G>A, NM_001354050.1:c.1410G>A, NM_001113513.2:c.1410G>A, NM_001113513.1:c.1410G>A, NM_001354054.2:c.1410G>A, NM_001354054.1:c.1410G>A, NM_001354052.2:c.1410G>A, NM_001354052.1:c.1410G>A, NM_001330598.2:c.1410G>A, NM_001330598.1:c.1410G>A, NM_001320853.2:c.1635G>A, NM_001320853.1:c.1635G>A, XM_017020822.2:c.1410G>A, XM_017020822.1:c.1410G>A, NM_001354053.2:c.1410G>A, NM_001354053.1:c.1410G>A, NM_001320851.2:c.1410G>A, NM_001320851.1:c.1410G>A, NM_001354061.2:c.1038G>A, NM_001354061.1:c.1038G>A, NM_001320854.2:c.1176G>A, NM_001320854.1:c.1176G>A, NM_001354055.2:c.1176G>A, NM_001354055.1:c.1176G>A, XM_047430725.1:c.1698G>A, XM_047430730.1:c.1698G>A, XM_047430722.1:c.1881G>A, XM_047430723.1:c.1794G>A, XM_047430739.1:c.1410G>A, XM_047430724.1:c.1794G>A, NM_001320852.1:c.1881G>A, XM_047430726.1:c.1665G>A, XM_047430740.1:c.1410G>A, NM_001354047.1:c.1665G>A, XM_047430728.1:c.1665G>A, XM_047430729.1:c.1794G>A, XM_047430732.1:c.1665G>A, NM_001354048.1:c.1410G>A, NM_001354056.1:c.1410G>A, XM_047430734.1:c.1410G>A, XM_047430738.1:c.1410G>A, XM_047430733.1:c.1410G>A, XM_047430735.1:c.1410G>A, XM_047430727.1:c.1635G>A, XM_047430737.1:c.1410G>A, XM_047430742.1:c.1410G>A, XM_047430745.1:c.1410G>A, XM_047430736.1:c.1410G>A, XM_047430741.1:c.1410G>A, XM_047430744.1:c.1410G>A, XM_047430743.1:c.1410G>A, XM_047430746.1:c.999G>A, XR_007063704.1:n.2789G>A

                                    18.

                                    rs1482156407 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      13:111283304 (GRCh38)
                                      13:111935651 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:111283303:C:T
                                      Gene:
                                      ARHGEF7 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000013.11:g.111283304C>T, NC_000013.10:g.111935651C>T, NM_003899.5:c.1420C>T, NM_003899.4:c.1420C>T, NM_003899.3:c.1420C>T, XM_006719956.4:c.1891C>T, XM_006719956.3:c.1891C>T, XM_006719956.2:c.1891C>T, XM_006719956.1:c.1891C>T, NM_145735.3:c.1891C>T, NM_145735.2:c.1891C>T, NM_001113511.2:c.1954C>T, NM_001113511.1:c.1954C>T, NM_001113512.2:c.1804C>T, NM_001113512.1:c.1804C>T, XM_017020815.2:c.1675C>T, XM_017020815.1:c.1675C>T, NM_001354046.2:c.1891C>T, NM_001354046.1:c.1891C>T, NM_001354060.2:c.1420C>T, NM_001354060.1:c.1420C>T, NM_001354051.2:c.1420C>T, NM_001354051.1:c.1420C>T, NM_001354059.2:c.1420C>T, NM_001354059.1:c.1420C>T, NM_001354058.2:c.1420C>T, NM_001354058.1:c.1420C>T, NM_001330597.2:c.1420C>T, NM_001330597.1:c.1420C>T, NM_001354049.2:c.1420C>T, NM_001354049.1:c.1420C>T, NM_001354057.2:c.1420C>T, NM_001354057.1:c.1420C>T, NM_001354050.2:c.1420C>T, NM_001354050.1:c.1420C>T, NM_001113513.2:c.1420C>T, NM_001113513.1:c.1420C>T, NM_001354054.2:c.1420C>T, NM_001354054.1:c.1420C>T, NM_001354052.2:c.1420C>T, NM_001354052.1:c.1420C>T, NM_001330598.2:c.1420C>T, NM_001330598.1:c.1420C>T, NM_001320853.2:c.1645C>T, NM_001320853.1:c.1645C>T, XM_017020822.2:c.1420C>T, XM_017020822.1:c.1420C>T, NM_001354053.2:c.1420C>T, NM_001354053.1:c.1420C>T, NM_001320851.2:c.1420C>T, NM_001320851.1:c.1420C>T, NM_001354061.2:c.1048C>T, NM_001354061.1:c.1048C>T, NM_001320854.2:c.1186C>T, NM_001320854.1:c.1186C>T, NM_001354055.2:c.1186C>T, NM_001354055.1:c.1186C>T, XM_047430725.1:c.1708C>T, XM_047430730.1:c.1708C>T, XM_047430722.1:c.1891C>T, XM_047430723.1:c.1804C>T, XM_047430739.1:c.1420C>T, XM_047430724.1:c.1804C>T, NM_001320852.1:c.1891C>T, XM_047430726.1:c.1675C>T, XM_047430740.1:c.1420C>T, NM_001354047.1:c.1675C>T, XM_047430728.1:c.1675C>T, XM_047430729.1:c.1804C>T, XM_047430732.1:c.1675C>T, NM_001354048.1:c.1420C>T, NM_001354056.1:c.1420C>T, XM_047430734.1:c.1420C>T, XM_047430738.1:c.1420C>T, XM_047430733.1:c.1420C>T, XM_047430735.1:c.1420C>T, XM_047430727.1:c.1645C>T, XM_047430737.1:c.1420C>T, XM_047430742.1:c.1420C>T, XM_047430745.1:c.1420C>T, XM_047430736.1:c.1420C>T, XM_047430741.1:c.1420C>T, XM_047430744.1:c.1420C>T, XM_047430743.1:c.1420C>T, XM_047430746.1:c.1009C>T, XR_007063704.1:n.2799C>T

                                      19.

                                      rs1481712040 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        13:111294320 (GRCh38)
                                        13:111946667 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:111294319:C:T
                                        Gene:
                                        ARHGEF7 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000011/3 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1480134471 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          13:111115231 (GRCh38)
                                          13:111767578 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:111115230:G:A
                                          Gene:
                                          ARHGEF7 (Varview), ARHGEF7-AS2 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000071/1 (ALFA)
                                          A=0./0 (GnomAD)
                                          A=0.000019/5 (TOPMED)
                                          A=0.000625/4 (1000Genomes)
                                          HGVS:

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